Canonical Allele Identifier: CA658656943

Gene: NEXN

Linked Data

• ClinVar Variation Id: 470680
• ClinVar RCV Id: RCV000536642 ; RCV000620168 ; RCV000786389
• dbSNP Id: rs1222794437
• gnomAD v4: 1-77942715-CCTTTA-C
• MyVariant Identifiers: chr1:g.78408404_78408408del (hg19) ; chr1:g.78408401_78408405del (hg19) ; chr1:g.77942719_77942723del (hg38) ; chr1:g.77942716_77942720del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942719_77942723del , CM000663.2:g.77942719_77942723del	GRCh38
NC_000001.10:g.78408404_78408408del , CM000663.1:g.78408404_78408408del	GRCh37
NC_000001.9:g.78180992_78180996del	NCBI36
NG_016625.1:g.59205_59209del , LRG_442:g.59205_59209del
NG_033243.2:g.41374_41378del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1918_1922del MANE Select	ENSP00000333938.7:p.Tyr640ThrfsTer14
ENST00000330010.12:c.1726_1730del	ENSP00000327363.8:p.Tyr576ThrfsTer14
ENST00000334785.11:c.1918_1922del	ENSP00000333938.7:p.Tyr640ThrfsTer14
ENST00000342754.5:c.1617_1621del
ENST00000470735.1:n.757_761del
ENST00000480732.2:n.1492_1496del
NM_001172309.1:c.1726_1730del	NP_001165780.1:p.Tyr576ThrfsTer14
NM_144573.3:c.1918_1922del , LRG_442t1:c.1918_1922del	NP_653174.3:p.Tyr640ThrfsTer14
XM_005271322.2:c.1918_1922del	XP_005271379.1:p.Tyr640ThrfsTer14
XM_005271323.2:c.1876_1880del	XP_005271380.1:p.Tyr626ThrfsTer14
XM_005271324.3:c.1726_1730del	XP_005271381.1:p.Tyr576ThrfsTer14
XM_005271325.2:c.1696_1700del	XP_005271382.1:p.Tyr566ThrfsTer14
XM_005271326.2:c.1684_1688del	XP_005271383.1:p.Tyr562ThrfsTer14
XM_005271327.2:c.1501_1505del	XP_005271384.1:p.Tyr501ThrfsTer14
XM_005271322.4:c.1918_1922del	XP_005271379.1:p.Tyr640ThrfsTer14
XM_005271323.4:c.1876_1880del	XP_005271380.1:p.Tyr626ThrfsTer14
XM_005271324.5:c.1726_1730del	XP_005271381.1:p.Tyr576ThrfsTer14
XM_005271325.4:c.1696_1700del	XP_005271382.1:p.Tyr566ThrfsTer14
XM_005271326.4:c.1684_1688del	XP_005271383.1:p.Tyr562ThrfsTer14
XM_005271327.4:c.1501_1505del	XP_005271384.1:p.Tyr501ThrfsTer14
NM_001172309.2:c.1726_1730del	NP_001165780.1:p.Tyr576ThrfsTer14
NM_144573.4:c.1918_1922del MANE Select	NP_653174.3:p.Tyr640ThrfsTer14